{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA255600",
  "communityStandardTitle": [
    "NM_002351.5(SH2D1A):c.302C>T (p.Pro101Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=25943[alleleid]",
        "alleleId": 25943,
        "preferredName": "NM_002351.5(SH2D1A):c.302C>T (p.Pro101Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/10904",
        "RCV": [
          "RCV000011651"
        ],
        "variationId": 10904
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.123504126C>T?assembly=hg19",
        "id": "chrX:g.123504126C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.124370276C>T?assembly=hg38",
        "id": "chrX:g.124370276C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/111033626",
        "rs": 111033626
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 124370276,
          "referenceAllele": "C",
          "start": 124370275
        }
      ],
      "hgvs": [
        "NC_000023.11:g.124370276C>T",
        "CM000685.2:g.124370276C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 123504126,
          "referenceAllele": "C",
          "start": 123504125
        }
      ],
      "hgvs": [
        "NC_000023.10:g.123504126C>T",
        "CM000685.1:g.123504126C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 123331807,
          "referenceAllele": "C",
          "start": 123331806
        }
      ],
      "hgvs": [
        "NC_000023.9:g.123331807C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 28977,
          "referenceAllele": "C",
          "start": 28976
        }
      ],
      "hgvs": [
        "NG_007464.1:g.28977C>T",
        "LRG_106:g.28977C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000589"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 414717,
          "referenceAllele": "C",
          "start": 414716
        }
      ],
      "hgvs": [
        "NG_033796.2:g.414717C>T",
        "LRG_782:g.414717C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005517"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 529,
          "referenceAllele": "C",
          "start": 528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000360027.5:c.302C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353126.4:p.Pro101Leu",
        "hgvsWellDefined": "ENSP00000353126.4:p.Pro101Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904471"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 626,
          "referenceAllele": "C",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000647259.2:c.*140C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494582.1:n.*140C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906453"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 608,
          "referenceAllele": "C",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000698112.1:n.608C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909162"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1990,
          "referenceAllele": "C",
          "start": 1989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000698113.1:c.302C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513571.1:p.Pro101Leu",
        "hgvsWellDefined": "ENSP00000513571.1:p.Pro101Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909163"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 162,
          "referenceAllele": "C",
          "start": 161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000698114.1:n.162C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909164"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 237,
          "referenceAllele": "C",
          "start": 236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000698115.1:n.237C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909165"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 431,
          "referenceAllele": "C",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000698116.1:c.302C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513572.1:p.Pro101Leu",
        "hgvsWellDefined": "ENSP00000513572.1:p.Pro101Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909166"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 357,
          "referenceAllele": "C",
          "start": 356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000698117.1:c.*16C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513573.1:n.*16C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909167"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 337,
          "referenceAllele": "C",
          "start": 336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000698118.1:c.302C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513574.1:p.Pro101Leu",
        "hgvsWellDefined": "ENSP00000513574.1:p.Pro101Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909168"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 601,
          "referenceAllele": "C",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000698119.1:n.601C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909169"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 139,
          "referenceAllele": "C",
          "start": 138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000698120.1:n.139C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909170"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 382,
          "referenceAllele": "C",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000371139.9:c.302C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360181.5:p.Pro101Leu",
        "hgvsWellDefined": "ENSP00000360181.5:p.Pro101Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750732",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371139.9:c.302C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002351.5:c.302C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360181.5:p.Pro101Leu"
          },
          "RefSeq": {
            "hgvs": "NP_002342.1:p.Pro101Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 626,
          "referenceAllele": "C",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000647259.1:c.*140C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494582.1:n.*140C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769319"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 420,
          "referenceAllele": "C",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000360027.4:c.302C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353126.4:p.Pro101Leu",
        "hgvsWellDefined": "ENSP00000353126.4:p.Pro101Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264991"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 601,
          "referenceAllele": "C",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000371139.8:c.302C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360181.4:p.Pro101Leu",
        "hgvsWellDefined": "ENSP00000360181.4:p.Pro101Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268434"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 453,
          "endIntronDirection": "-",
          "endIntronOffset": 41545,
          "referenceAllele": "C",
          "start": 453,
          "startIntronDirection": "-",
          "startIntronOffset": 41546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011355",
      "geneNCBI_id": 10735,
      "geneSymbol": "STAG2",
      "hgvs": [
        "ENST00000469481.1:n.454-41546C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312157"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 279,
          "referenceAllele": "C",
          "start": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000477673.2:c.225C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477094.1:p.Ser75="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS318435"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 292,
          "referenceAllele": "C",
          "start": 291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000491950.5:n.292C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329446"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 237,
          "referenceAllele": "C",
          "start": 236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000494073.5:n.237C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331091"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 663,
          "referenceAllele": "C",
          "start": 662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000635645.1:n.663C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408204"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825579457",
      "coordinates": [
        {
          "allele": "T",
          "end": 663,
          "referenceAllele": "C",
          "start": 662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "NM_001114937.2:c.302C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001108409.1:p.Pro101Leu",
        "hgvsWellDefined": "NP_001108409.1:p.Pro101Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011348"
    },
    {
      "@id": "http://reg.genome.network/allele/PA104855",
      "coordinates": [
        {
          "allele": "T",
          "end": 663,
          "referenceAllele": "C",
          "start": 662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "NM_002351.4:c.302C>T",
        "LRG_106t1:c.302C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002342.1:p.Pro101Leu",
        "hgvsWellDefined": "NP_002342.1:p.Pro101Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027661"
    },
    {
      "@id": "http://reg.genome.network/allele/PA104855",
      "coordinates": [
        {
          "allele": "T",
          "end": 382,
          "referenceAllele": "C",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "NM_002351.5:c.302C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002342.1:p.Pro101Leu",
        "hgvsWellDefined": "NP_002342.1:p.Pro101Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695518",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371139.9:c.302C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002351.5:c.302C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360181.5:p.Pro101Leu"
          },
          "RefSeq": {
            "hgvs": "NP_002342.1:p.Pro101Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825579457",
      "coordinates": [
        {
          "allele": "T",
          "end": 382,
          "referenceAllele": "C",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "NM_001114937.3:c.302C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001108409.1:p.Pro101Leu",
        "hgvsWellDefined": "NP_001108409.1:p.Pro101Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712134"
    }
  ],
  "type": "nucleotide"
}